Case
SR1717
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Hidden
SR1717
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Highlighted Images
| Age at visit: 36 years | |
| OD | OS |
|---|---|
History
This 36 year old woman first noticed difficulty seeing the blackboard at age 13, at which time her visual acuity was found to be 20/100 OU. She has a similarly affected brother.
Pedigree
| Age at visit: 18 years |
| OD | |||
|---|---|---|---|
| Age at visit: 32 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 48 years |
| OD | OS | ||
|---|---|---|---|
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Pro1380Leu CCG>CTG | Val767Asp GTC>GAC | AR |
Disease:
Gene:
Allele 1:
Pro1380Leu CCG>CTG
Allele 2:
Val767Asp GTC>GAC
Inheritance:
AR